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*SOLIDARITY EPISODE* This month in partnership with Alport Syndrome Foundation!

Our Carrier Connections program features a different X-linked condition each month with the goal to increase awareness of X-linked conditions and how they impact the lives of women and girls. Some of these X-linked conditions are part of a larger disease umbrella with other types of inheritance patterns.

This month, we are featuring Alport syndrome. Alport syndrome is an inherited disorder caused by mutations, or changes, in the genes COL4A3, COL4A4, and COL4A5 that inhibit their ability to produce a protein called collagen IV. There are four main types of Alport syndrome characterized by their mode of inheritance; the X-linked version of this syndrome, X-linked Alport syndrome (XLAS), is the most commonly reported and brought on specifically by a defective COL4A5 gene. Other inheritance forms include autosomal recessive, autosomal dominant, and digenic. Alport syndrome is most frequently associated with symptoms of progressive kidney disease as well as bilateral sensorineural hearing loss and eye abnormalities.

Today, we are bringing on December West. December has been married to Tarik West for 19 years. They have five children Alexis, Obed, Xyia, Nhalani, and Othniel. They reside in Akron, Ohio. Nhalani, who is 12-year-old now, was diagnosed with autosomal recessive Alport syndrome at the age of 6. Nhalani was misdiagnosed several times. Several years later, after a failed hearing screening and diagnosed with bilateral sensorineural hearing loss, Nhalani was referred to a geneticist who properly diagnosed her with autosomal recessive Alport syndrome.

Carrier Connections is sponsored by Kyowa Kirin, Amgen, and Sanofi. For more information about our organization, check out ⁠⁠⁠⁠⁠⁠rememberthegirls.org⁠⁠⁠⁠⁠⁠.

This month as part of our Carrier Connections program, we are discussing navigating romantic relationships as a female impacted by X-linked disease.

In this episode, Remember The Girls founder, Taylor Kane, brings on her partner of 5 years to discuss how Taylor being a carrier of ALD has impacted their relationship.

Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out ⁠⁠⁠⁠⁠⁠rememberthegirls.org⁠⁠⁠⁠⁠⁠.

Our Carrier Connections program features a different X-linked condition each month with the goal to increase awareness of X-linked conditions and how they impact the lives of women and girls.

This month, we are featuring Lesch-Nyhan syndrome (LNS). LNS is an X-linked disorder caused by a mutation in the gene, HPRT1, which plays a critical role in the body’s ability to process purines. With the recycling of purines involved in the production of uric acid, this deficiency or complete lack of function in the HPRT1 gene in individuals with LNS results in excess amounts of uric acid in the body. This buildup of uric acid has many toxic effects on the body, contributing to a variety of neurological and behavioral issues. Perhaps most notably, individuals with LNS suffer from self-mutilative behaviors that tend to manifest around the age of two or three.

Today, we are bringing on Gaby Ponce. Gaby Ponce is from Mexico and mother to Antonio, who has Lesch-Nyhan syndrome. She is the director of the Fundación Amor y Fuerz Lesch Nyhan. The foundation supports 11 families here in Mexico and helps them access medication, rehab therapy online, checkups every six months with a nephrologist and neurologist, dental extraction surgeries, wheelchairs, and more. They work with Love Never Sinks in the United States and Lesch Nyhan Action in France to advocate for a gene therapy treatment.

Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out ⁠⁠⁠⁠⁠rememberthegirls.org⁠⁠⁠⁠⁠.

Our Carrier Connections program features a different X-linked condition each month with the goal to increase awareness of X-linked conditions and how they impact the lives of women and girls.

This month, we are featuring Lesch-Nyhan syndrome (LNS). LNS is an X-linked disorder caused by a mutation in the gene, HPRT1, which plays a critical role in the body’s ability to process purines. With the recycling of purines involved in the production of uric acid, this deficiency or complete lack of function in the HPRT1 gene in individuals with LNS results in excess amounts of uric acid in the body. This buildup of uric acid has many toxic effects on the body, contributing to a variety of neurological and behavioral issues. Perhaps most notably, individuals with LNS suffer from self-mutilative behaviors that tend to manifest around the age of two or three.

Today, we are bringing on Michelle Lucas. Michelle Lucas is a 51-year-old carrier of LNS. She has been married for 26 years (27 on the 25th of this month) and has two sons with LNS, who passed away in 2010 (Daniel, age 14 & Keith, age 20). She loves to spend time with her husband and their two Saint Bernard’s. She founded the nonprofit organization Love Never Sinks and served as the CEO from 2013-2021. She continues to advocate for others with LNS, trying to bring awareness, togetherness, and hopefully one day, a treatment.

Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out ⁠⁠⁠⁠rememberthegirls.org⁠⁠⁠⁠.

Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females.

This month, we are featuring X-linked ichthyosis (XLI). XLI is a rare X-linked condition caused by a deficiency in the enzyme steroid sulfatase which, under normal conditions, functions to maintain the integrity of the skin. In individuals with X-linked ichthyosis, this protein’s normal function is interrupted, causing cholesterol to accumulate and the shedding of dead skin cells to be prevented.

Previous work into the condition, led by Dr. William Davies and colleagues, has shown that individuals with XLI are substantially more likely than non-affected individuals to present with developmental disorders, such as Attention Deficit Hyperactivity Disorder (ADHD) and autism.

Today, we are joined by Dr. William Davies! Dr. Davies is interested in the (epi)genetic mechanisms underlying sex differences in brain function and behavior. His work focusses on the role of genes on the sex chromosomes (i.e. the X and Y), which are asymmetrically inherited between the sexes. A principal aim of his research is to elucidate why the sexes are differentially vulnerable to common and disabling disorders such as autism and ADHD, and ultimately to help develop more effective sex-specific therapies.

Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out ⁠⁠⁠⁠rememberthegirls.org⁠⁠⁠⁠.

Our Carrier Connections program features a different X-linked condition each month with the goal to increase awareness of X-linked conditions and how they impact the lives of women and girls.

This month, we are featuring Hunter syndrome. Hunter syndrome is an X-linked genetic disorder caused by the deficiency of the iduronate 2-sulfatase enzyme, an essential protein required for sugar breakdown. As a result, a specific type of sugar molecule, glycosaminoglycans (GAG), builds up in the cell, causing widespread issues in the physical and mental development of individuals affected by this syndrome.

Today, we are bringing on Cristol O'Loughlin, founder & CEO of ANGEL AID CARES and a carrier of Hunter syndrome. Cristol is fiercely passionate about providing social, emotional, physical and financial relief to Raregivers™ ~ patients, caregivers, and professionals who hold both hope and grief in the same human heart.

Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out ⁠⁠⁠rememberthegirls.org⁠⁠⁠.

Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females.

This month, we are featuring Kennedy's disease. Kennedy's disease is an X-linked disorder characterized by muscle weakness and wasting that typically manifests in adulthood. It is caused by a mutation in the AR gene, which is responsible for encoding a protein called an androgen receptor. Studies show that some female carriers may experience muscle weakness and neurodegeneration.

Today, we are bringing on Joan, a 62-year old Kennedy's disease carrier. She has been married for 42 years and has two sons ages 36 and 37.  She lives in the country in Virginia and keeps busy with gardening, weaving, cooking, and spending time with her llama and goats. She runs a monthly Zoom support group for KD carriers. 

Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out ⁠⁠rememberthegirls.org⁠⁠.

Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females.

This month, we are featuring Kennedy's disease. Kennedy's disease is an X-linked disorder characterized by muscle weakness and wasting that typically manifests in adulthood. It is caused by a mutation in the AR gene, which is responsible for encoding a protein called an androgen receptor. Studies show that some female carriers may experience muscle weakness and neurodegeneration.

Today, we are joined by Dr. Christopher Grunseich, M.D. Dr. Chris Grunseich is a Staff Clinician in the Neurogenetics Branch, NINDS. He completed his undergraduate studies at Brown University, and went on to receive his M.D. from SUNY Stony Brook School of Medicine in 2006. While at SUNY Stony Brook he completed an HHMI research fellowship year working in the laboratory of Dr. Gail Mandel. He then completed medical internship at St. Vincent’s Hospital, and his residency training in neurology at Georgetown University. He joined Dr. Kenneth Fischbeck’s research group as a neurogenetics fellow, and has been a Staff Clinician since 2016. He is board certified in Neurology. His research focuses on clinical studies of patients with motor neuron disease and using patient-derived cell models to better understand the biology of motor neuron diseases.

Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out ⁠⁠⁠rememberthegirls.org⁠⁠⁠.

Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females.

This month, we are featuring Kennedy's disease. Kennedy's disease is an X-linked disorder characterized by muscle weakness and wasting that typically manifests in adulthood. It is caused by a mutation in the AR gene, which is responsible for encoding a protein called an androgen receptor. Studies show that some female carriers may experience muscle weakness and neurodegeneration.

Today, we are bringing on Alison, a 55-year-old Kennedy's disease carrier who lives in the UK and works as a school nurse. 

Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.

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Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females.

This month, we are featuring Barth syndrome. Barth syndrome is an X-linked disorder characterized by symptoms that include the enlargement and weakening of the heart, skeletal muscle abnormalities, short stature, and recurrent infections. This syndrome is the result of a mutation in the gene, TAFAZZIN, which normally functions to encode a protein involved in remodeling cardiolipin. Female carriers typically do not experience symptoms associated with Barth syndrome.

Today, we are bringing on Kelsey, a 33-year-old pediatric nurse. She has been married to her husband AJ for ten years. They have two littles boys, Henry who is in heaven, and Wally who will be six in December. When she's not chasing after their very outgoing and social little boy, she loves to read and spend time with her family. 

Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.